ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1710+1G>C

dbSNP: rs1784326790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202391 SCV001373501 pathogenic Primary ciliary dyskinesia 2019-06-18 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9 of the DNAH11 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another DNAH11 variant in an individual affected with primary ciliary dyskinesia (Invitae). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002480660 SCV002802337 likely pathogenic Primary ciliary dyskinesia 7 2021-10-15 criteria provided, single submitter clinical testing

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